Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Clin Genet. 2017 Dec 15;:
Authors: Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M, Satake W, Kobayashi K, Tsuneishi S, Takada S, Yamaguchi H, Nagase H, Nozu K, Okamoto N, Nishio H, Toda T, Morioka I, Wada H, Kurahashi H, Iijima K
PMID: 29243230 [PubMed - as supplied by publisher]

Source: Clinical Genetics - December 15, 2017 Category: Genetics & Stem Cells Authors: Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M, Satake W, Kobayashi K, Tsuneishi S, Takada S, Yamaguchi H, Nagase H, Nozu K, Okamoto N, Nishio H, Toda T, Morioka I, Wada H, Kurahashi H, Iijima K Tags: Clin Genet Source Type: research